full name
centromere protein J

synonyms
BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, Sas-4, SASS4, SCKL4, CENPJ, ENSG00000151849

HGNC
HGNC:17272

Entrez Gene
Gene:55835

ENSEMBL
ENSG00000151849

location
chr: 13
start: 25456412
stop: 25497027
strand: -

OMIM
OMIM:609279: CENPJ (Autosomal recessive inheritance)
OMIM:613676: ?Seckel syndrome 4
OMIM:608393: Microcephaly 6, primary, autosomal recessive

transcripts
NR_047595.1
NM_018451.4
NR_047594.1

pathways
AURKA Activation by TPX2 [NCBI:1383018] [REACTOME:R-HSA-8854518] [PUBMED:14580337] [PUBMED:21147853] [PUBMED:22094468] [PUBMED:21347367]
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:13978319] [PUBMED:23348840] [PUBMED:25047614] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:21422230] [PUBMED:24469809] [PUBMED:23530209] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:23351793] [PUBMED:21427764] [PUBMED:11676918] [PUBMED:22653444]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic [NCBI:1269763] [REACTOME:R-HSA-69278]
Centrosome maturation [NCBI:1269805] [REACTOME:R-HSA-380287] [PUBMED:17178454] [PUBMED:18437411]
Cilium Assembly [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22118932] [PUBMED:22653444] [PUBMED:22389062] [PUBMED:20399632] [PUBMED:25047619] [PUBMED:20395968] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:19602418]
G2/M Transition [NCBI:1269799] [REACTOME:R-HSA-69275]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Loss of Nlp from mitotic centrosomes [NCBI:1269809] [REACTOME:R-HSA-380259] [PUBMED:12852856]
Loss of proteins required for interphase microtubule organization from the centrosome [NCBI:1269808] [REACTOME:R-HSA-380284] [PUBMED:12140259] [PUBMED:12852856]
Mitotic G2-G2/M phases [NCBI:1269797] [REACTOME:R-HSA-453274]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
Recruitment of mitotic centrosome proteins and complexes [NCBI:1269806] [REACTOME:R-HSA-380270] [PUBMED:18437411] [PUBMED:17178454]
Regulation of PLK1 Activity at G2/M Transition [NCBI:1269803] [REACTOME:R-HSA-2565942] [PUBMED:12207013] [PUBMED:18615013] [PUBMED:13678582] [PUBMED:18378770] [PUBMED:18566290] [PUBMED:18477460] [PUBMED:22365832]
TP53 Regulates Transcription of Cell Cycle Genes [NCBI:1383071] [REACTOME:R-HSA-6791312] [PUBMED:12897130] [PUBMED:11896574] [PUBMED:18337750] [PUBMED:24739573] [PUBMED:9184226] [PUBMED:8242751] [PUBMED:11812999] [PUBMED:11574543] [PUBMED:22172947] [PUBMED:17719541] [PUBMED:20460379] [PUBMED:22802529] [PUBMED:9671765] [PUBMED:11814693] [PUBMED:16160013] [PUBMED:23485469] [PUBMED:26122615] [PUBMED:23236473] [PUBMED:22802528] [PUBMED:9712883] [PUBMED:7784094] [PUBMED:20531387] [PUBMED:9780002] [PUBMED:10891498] [PUBMED:22252318] [PUBMED:19276069] [PUBMED:20817677] [PUBMED:14968113] [PUBMED:18431400] [PUBMED:20352051] [PUBMED:12692263] [PUBMED:18719709] [PUBMED:16140933] [PUBMED:7973727] [PUBMED:10524633] [PUBMED:15574328] [PUBMED:24096481] [PUBMED:15186775] [PUBMED:16772293] [PUBMED:8242752] [PUBMED:8944033] [PUBMED:17146433] [PUBMED:9659898]
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain [NCBI:1383074] [REACTOME:R-HSA-6804115] [PUBMED:22252318] [PUBMED:17146433] [PUBMED:8944033] [PUBMED:12897130] [PUBMED:11896574] [PUBMED:18337750] [PUBMED:9184226] [PUBMED:9671765] [PUBMED:16140933] [PUBMED:16160013] [PUBMED:20531387] [PUBMED:11814693] [PUBMED:23236473] [PUBMED:9712883] [PUBMED:19276069] [PUBMED:14968113] [PUBMED:20352051]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]